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Updated: Nov 14, 2025

Author Spotlight: Decoding Mitochondrial Aging
Published on: June 30, 2023
Mitochondrial Membrane Protein-Associated Neurodegeneration: A Case Series of Six Children
Faruk Incecik1, Ozlem M Herguner1, Atil Bisgin2
1Departments of Pediatric Neurology, AGENTEM, Cukurova University Faculty of Medicine, Adana, Turkey.
Abstract:
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. Mitochondrial membrane protein-associated neurodegeneration (MPAN), a subtype of NBIA, is caused by mutation in the orphan gene C19orf12. A slowly progressive gait disorder from generalized dystonia and spasticity and cognitive impairment constitute the main features of MPAN. The C19orf12 p.Thr11Met mutation is frequent among Turkish patients with MPAN. Here, we report the clinical manifestations and genetic study results of six Turkish patients with MPAN due to different mutations from previous.
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